ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2290C>T (p.Leu764Phe)

dbSNP: rs768591509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817257 SCV000957807 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 764 of the ITGA7 protein (p.Leu764Phe). This variant is present in population databases (rs768591509, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. ClinVar contains an entry for this variant (Variation ID: 660123). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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